AutismKB 2.0

Annotation Detail for SLC6A2


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Basic Information Top
Gene Symbol:SLC6A2 ( NAT1,NET,NET1,SLC6A5 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Band: 16q12.2
Quick LinksEntrez ID:6530; OMIM: 163970; Uniprot ID:SC6A2_HUMAN; ENSEMBL ID: ENSG00000103546; HGNC ID: 11048
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
184N-linked (GlcNAc...) (Potential).
192N-linked (GlcNAc...) (Potential).
198N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
184N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
192N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
198N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
184N-linkedHMM predict
192N-linkedHMM predict
198N-linkedHMM predict
208Phosphothreonine(PKA)HMM predict
541MethyllysineHMM predict
548SulfotyrosineHMM predict
553C-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001043
  • Location:chr16 54248056-54295198
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54234650 54234979 329 13242
CTCF G2GSE9613 54246796 54247680 884 819
FOXA1 MCF7GSE15244 54228304 54228789 485 19510
P300 T0-glioblastomaGSE21026 54232772 54233562 790 14890
RARA MCF7GSE15244 54228304 54228789 485 19510
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 54303735 54303974 239 8656
CTCF CD4SISSRdata 54303735 54303974 239 8656
NRSF JurkatGSE13047 54301162 54302449 1287 6607
NRSF mAbJurkat 54296824 54298119 1295 2273
NRSF mAbJurkat 54298469 54299264 795 3668
NRSF mAbJurkat 54299834 54300275 441 4856
NRSF mAbJurkat 54300858 54303091 2233 6776
NRSF mAbJurkat 54303508 54304941 1433 9026
NRSF-mono JurkatQuESTdata 54301166 54302444 1278 6607
NRSF pAbJurkat 54300858 54302106 1248 6284
NRSF pAbJurkat 54311371 54311836 465 16405
NRSF-poly JurkatQuESTdata 54301287 54302420 1133 6655
TAF HelaGSE8489 54311164 54311836 672 16302
hScc1 BcellGSE12603 54303547 54303989 442 8570
hScc1 BcellGSE12603 54311164 54311836 672 16302
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54293097 54293480 383 0
CTCF G2GSE9613 54294867 54295507 640 0
FoxA1 MCF7MACSdata 54284322 54284525 203 0
H3K27me3 colorectalcancer 54249945 54250171 226 0
P300 T30-glioblastomaGSE21026 54284011 54284515 504 0
hScc1 BcellGSE12603 54292996 54293785 789 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018